Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116661512-G-A | APOA5 | c.433C>T | p.Gln145* | Nonsense | 4/4 | - |
8-133885381-G-T | TG | c.553G>T | p.Ala185Ser | Missense | 5/48 | - |
11-116661530-G-A | APOA5 | c.415C>T | p.Gln139* | Nonsense | 4/4 | - |
11-116661212-G-A | APOA5 | c.733C>T | p.Arg245Cys | Missense | 4/4 | - |
11-116660918-G-A | APOA5 | c.1027C>T | p.Arg343Cys | Missense | 4/4 | - |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
11-116661101-G-A | APOA5 | c.844C>T | p.Arg282Cys | Missense | 4/4 | - |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |